Excessive urinary
oxalate excretion, termed
hyperoxaluria, may arise from inherited or acquired diseases. The most severe forms are caused by increased endogenous production of
oxalate related to one of several
inborn errors of metabolism, termed
primary hyperoxaluria. Recurrent
kidney stones and progressive medullary
nephrocalcinosis lead to the loss of kidney function, requiring dialysis or
transplantation, accompanied by systemic
oxalate deposition that is termed systemic
oxalosis. For most
primary hyperoxalurias, accurate diagnosis leads to the use of
therapies that include
pyridoxine supplementation, urinary crystallisation inhibitors, hydration with enteral fluids and, in the near future, probiotic supplementation or other
innovative therapies. These
therapies have varying degrees of success, and none represent a cure.
Organ transplantation results in reduced patient and organ survival when compared with national statistics. Exciting new approaches under investigation include the restoration of defective enzymatic activity through the use of chemical chaperones and hepatocyte
cell transplantation, or recombinant gene therapy for
enzyme replacement. Such approaches give hope for a future therapeutic cure for
primary hyperoxaluria that includes correction of the underlying genetic defect without exposure to the life-long dangers associated with
organ transplantation.